A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14255363



Internal ID22188499
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:58059905..58076955hg38UCSC Ensembl
Outerchr12:58453688..58470738hg19UCSC Ensembl
Cytoband12q14.1
Allele length
AssemblyAllele length
hg388867
hg198867
Variant TypeCNV insertion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3234291
Supporting Variants
SamplesHG00731
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14255363
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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